TOM1L2
TOM1-like protein 2
Also known as: TM1L2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6ZVM7
- Gene
- TOM1L2
- Ensembl
- ENSG00000175662
- Chromosome
- 17
- Canonical length
- 507 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Vesicles,Microtubules,Primary cilium,Basal body
OverviewNCBI Gene
This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]
Canonical amino-acid sequenceUniProt
507 residues, UniProt reviewed canonical sequence.
>Q6ZVM7|TOM1L2
1 MEFLLGNPFS TPVGQCLEKA TDGSLQSEDW TLNMEICDII NETEEGPKDA IRALKKRLNG
61 NRNYREVMLA LTVLETCVKN CGHRFHILVA NRDFIDSVLV KIISPKNNPP TIVQDKVLAL
121 IQAWADAFRS SPDLTGVVHI YEELKRKGVE FPMADLDALS PIHTPQRSVP EVDPAATMPR
181 SQSQQRTSAG SYSSPPPAPY SAPQAPALSV TGPITANSEQ IARLRSELDV VRGNTKVMSE
241 MLTEMVPGQE DSSDLELLQE LNRTCRAMQQ RIVELISRVS NEEVTEELLH VNDDLNNVFL
301 RYERFERYRS GRSVQNASNG VLNEVTEDNL IDLGPGSPAV VSPMVGNTAP PSSLSSQLAG
361 LDLGTESVSG TLSSLQQCNP RDGFDMFAQT RGNSLAEQRK TVTYEDPQAV GGLASALDNR
421 KQSSEGIPVA QPSVMDDIEV WLRTDLKGDD LEEGVTSEEF DKFLEERAKA AEMVPDLPSP
481 PMEAPAPASN PSGRKKPERS EDALFALLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TOM1L2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 132 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 132 nTPM
- cerebral cortex: 80 nTPM
- hippocampal formation: 66 nTPM
- amygdala: 62 nTPM
- midbrain: 58 nTPM
- skeletal muscle: 57 nTPM
Single-cell type
- podocytes: 920 nCPM
- esophageal apical cells: 550 nCPM
- urothelial cells: 419 nCPM
- sertoli cells: 386 nCPM
- esophageal suprabasal cells: 352 nCPM
- distal convoluted tubule cells: 343 nCPM
Immune cell
- neutrophil: 13 nTPM
- basophil: 10 nTPM
- eosinophil: 4.8 nTPM
- naive CD4 T-cell: 4.3 nTPM
- non-classical monocyte: 3.4 nTPM
- classical monocyte: 3.3 nTPM
Brain region
- pons: 219 nTPM
- midbrain: 194 nTPM
- medulla oblongata: 181 nTPM
- thalamus: 176 nTPM
- white matter: 166 nTPM
- cerebral cortex: 164 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.56
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.68
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- VHS domain
- GAT domain
- ENTH/VHS
- Target of Myb protein 1
- GAT domain superfamily
- VHS domain
- GAT domain
- TOM1-like protein 2, VHS domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TOM1L2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TOM1L2 as an antibody target. Whether an autoantibody or antibody against TOM1L2 could matter depends on whether native TOM1L2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TOM1L2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TOM1L2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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